Canonical Allele Identifier: CA2499218780

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1076264
• ClinVar RCV Id: RCV001390113
• dbSNP Id: rs1064795855

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150946955dup , CM000669.2:g.150946955dup	GRCh38
NC_000007.13:g.150644043dup , CM000669.1:g.150644043dup	GRCh37
NC_000007.12:g.150274976dup	NCBI36
NG_008916.1:g.35975dup , LRG_288:g.35975dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4088dup
ENST00000262186.10:c.3255dup MANE Select	ENSP00000262186.5:p.Pro1086AlafsTer?
ENST00000330883.9:c.2235dup	ENSP00000328531.4:p.Pro746AlafsTer?
ENST00000262186.9:c.3255dup	ENSP00000262186.5:p.Pro1086AlafsTer?
ENST00000330883.8:c.2235dup	ENSP00000328531.4:p.Pro746AlafsTer?
NM_000238.3:c.3255dup , LRG_288t1:c.3255dup	NP_000229.1:p.Pro1086AlafsTer?
NM_172057.2:c.2235dup , LRG_288t3:c.2235dup	NP_742054.1:p.Pro746AlafsTer?
XM_011516185.1:c.2955dup	XP_011514487.1:p.Pro986AlafsTer?
XM_011516185.2:c.2955dup	XP_011514487.1:p.Pro986AlafsTer?
XM_017012195.1:c.3105dup	XP_016867684.1:p.Pro1036AlafsTer?
XM_017012196.1:c.3078dup	XP_016867685.1:p.Pro1027AlafsTer?
NM_000238.4:c.3255dup MANE Select	NP_000229.1:p.Pro1086AlafsTer?
NM_172057.3:c.2235dup	NP_742054.1:p.Pro746AlafsTer?